RGD Reference Report - Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia. - Rat Genome Database

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Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia.

Authors: Stober, G  Syagailo, YV  Okladnova, O  Jungkunz, G  Knapp, M  Beckmann, H  Lesch, KP 
Citation: Stober G, etal., Biol Psychiatry 1999 Jun 15;45(12):1585-91.
RGD ID: 1358554
Pubmed: PMID:10376119   (View Abstract at PubMed)

BACKGROUND: Early differentiation of the nervous system and adult CNS neuroplasticity is modulated by PAX-6. We have shown previously that a highly polymorphic, functional AC/AG repeat in the 5' regulatory region of the gene showed significantly increased promoter activity, if containing > or = 29 repeats, and that the heterozygous genotype (< or = 28/> or = 29) revealed increased mRNA PAX-6 levels in human brain tissue compared to the homozygous short variant. METHODS: In a case-control study of 655 unrelated individuals, allele frequencies and genotype distributions of the functional PAX-6 promoter polymorphism were investigated comprising patients with DSM-IV schizophrenia, patients with affective disorders, and population controls. RESULTS: No allelic or genotypic association of the PAX-6 promoter polymorphism to affective disorder or to schizophrenia as one disease entity was observed. After subtyping schizophrenia into paranoid and nonparanoid forms, potential evidence was found for a genotypic association of the high-activity variant with the paranoid subtype of schizophrenia (p = .02). The estimated odds ratio was 1.7 (95% CI .98 to 2.95) for those heterozygous and 1.4 (95% CI .82 to 2.42) for those heterozygous or homozygous for the high-activity variant compared to the homozygous low-activity variant. CONCLUSIONS: Our finding indicates that early developmental genes may be involved in the etiopathogenesis of schizophrenia subtypes via variable transcriptional regulation in the developing and adult human brain.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
paranoid schizophrenia  IAGP 1358554DNA:repeats:promoter: (human)RGD 
paranoid schizophrenia  ISOPAX6 (Homo sapiens)1358554; 1358554DNA:repeats:promoter: (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pax6  (paired box 6)

Genes (Mus musculus)
Pax6  (paired box 6)

Genes (Homo sapiens)
PAX6  (paired box 6)


Additional Information